Found: 14
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A pilot investigation of low-pass genome sequencing identifying site-specific variation in chromosomal mosaicisms by a multiple site sampling approach in first-trimester miscarriages.
- Published in:
- Human Reproduction, 2023, v. 38, n. 8, p. 1628, doi. 10.1093/humrep/dead090
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- Publication type:
- Article
Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1357, doi. 10.3390/genes14071357
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- Publication type:
- Article
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.
- Published in:
- Human Genetics, 2023, v. 142, n. 3, p. 363, doi. 10.1007/s00439-022-02510-4
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- Publication type:
- Article
TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. D1, p. D1168, doi. 10.1093/nar/gkac978
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- Publication type:
- Article
The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 36, doi. 10.3390/ijns8020036
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- Publication type:
- Article
Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.803088
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- Publication type:
- Article
Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.742325
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- Publication type:
- Article
The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 2, p. 235, doi. 10.1111/aogs.14003
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- Publication type:
- Article
Deciphering the complexity of simple chromosomal insertions by genome sequencing.
- Published in:
- Human Genetics, 2021, v. 140, n. 2, p. 361, doi. 10.1007/s00439-020-02210-x
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- Publication type:
- Article
Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review.
- Published in:
- Genes, 2021, v. 12, n. 1, p. 11, doi. 10.3390/genes12010011
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- Publication type:
- Article
Low-pass genome sequencing: a validated method in clinical cytogenetics.
- Published in:
- Human Genetics, 2020, v. 139, n. 11, p. 1403, doi. 10.1007/s00439-020-02185-9
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- Publication type:
- Article
The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00761
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- Publication type:
- Article
Chromosome Copy Number Variants in Fetuses with Syndromic Malformations.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 10, p. 725, doi. 10.1002/bdr2.1054
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- Publication type:
- Article